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Transient neonatal diabetes mellitus

ORPHA:99886DiseaseAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Neonatal

Ассоциированные гены (5)

ABCC8
ATP binding cassette subfamily C member 8
Disease-causing germline mutation(s) in
OMIM: 600509
KCNJ11
potassium inwardly rectifying channel subfamily J member 11
Disease-causing germline mutation(s) in
OMIM: 600937
HYMAI
hydatidiform mole associated and imprinted
Disease-causing germline mutation(s) in
OMIM: 606546
PLAGL1
PLAG1 like zinc finger 1
Disease-causing germline mutation(s) in
OMIM: 603044
ZFP57
ZFP57 zinc finger protein
Disease-causing germline mutation(s) in
OMIM: 612192

Фенотипы (23)

Очень частый (80–99%) — 5
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001944Dehydration
HP:0003074Hyperglycemia
HP:0040216Hypoinsulinemia
Частый (30–79%) — 4
HP:0000158Macroglossia
HP:0001537Umbilical hernia
HP:0004904Maturity-onset diabetes of the young
HP:0008255Transient neonatal diabetes mellitus
Периодический (5–29%) — 12
HP:0000077Abnormality of the kidney
HP:0000079Abnormality of the urinary system
HP:0000365Hearing impairment
HP:0000707Abnormality of the nervous system
HP:0000821Hypothyroidism
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001627Abnormal heart morphology
HP:0009800Maternal diabetes
HP:0012758Neurodevelopmental delay
HP:0040064Abnormality of limbs
Очень редкий (1–4%) — 1
HP:0001953Diabetic ketoacidosis
Исключён (0%) — 1
HP:0030057Autoimmune antibody positivity

Эпидемиология (2)

Prevalence at birth
1-9 / 1 000 000
Europe
Point prevalence
Unknown
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials